A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2222209



Internal ID17887974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222646402..222647505hg38UCSC Ensembl
Innerchr2:223511121..223512224hg19UCSC Ensembl
Innerchr2:223219365..223220468hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg381104
hg191104
hg181104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963776
Supporting Variants
SamplesHGDP01307
Known GenesFARSB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2222209
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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